THSD7A c.55_57delinsTGG ;(p.R19W)

Variant ID: 7-11871516-GCG-CCA

NM_015204.2(THSD7A):c.55_57delinsTGG;(p.R19W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Plos One
Strom, Samuel P SP; Clark, Michael J MJ; Martinez, Ariadna A; Garcia, Sarah S; Abelazeem, Amira A AA; Matynia, Anna A; Parikh, Sachin S; Sullivan, Lori S LS; Bowne, Sara J SJ; Daiger, Stephen P SP; Gorin, Michael B MB
Publication Date: 2016

Variant appearance in text: THSD7A: R19W
PubMed Link: 26964041
Variant Present in the following documents:
  • pone.0150944.s002.xls, sheet 1
View BVdb publication page